scholarly journals Association between interleukin-21 gene rs6822844 polymorphism and rheumatoid arthritis susceptibility

2019 ◽  
Vol 39 (8) ◽  
Author(s):  
Kewei Ren ◽  
Jilei Tang ◽  
Luming Nong ◽  
Nan Shen ◽  
Xiaolong Li

Abstract Controversial results concerning the association between a polymorphism rs6822844 in the interleukin (IL) 21 (IL-21) gene and rheumatoid arthritis (RA) have existed. A meta-analysis to confirm above relationships is necessary to be performed immediately. We conducted a search in the PubMed database, covering all papers published up to 20 October 2018. Overall, six case–control studies with 3244 cases and 3431 healthy controls were included. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to assess the strength of this association. Publication bias was assessed with both Egger’s and Begg’s tests. After calculation, we found that IL-21 rs6822844 polymorphism could decrease RA risk in overall genetic models (allelic contrast: OR = 0.77, 95% CI = 0.62–0.97, P=0.024; TG versus GG: OR = 0.68, 95% CI = 0.50–0.92, P=0.013, and dominant genetic model: OR = 0.72, 95% CI = 0.55–0.94, P=0.016). Similarly, stratified analysis by race, source of control, significantly decreased association was found in Asians, Caucasians and hospital-based (HB) control source. Finally, in the subgroup analysis of rheumatoid factor (RF) and anti-citrullinated protein antibody (ACPA) status, poorly decreased relationship was detected between IL-21 rs6822844 polymorphism and RF negative and ACPA positive RA risk, respectively. No obvious evidence of publication bias was detected in overall analysis. In summary, our study indicated that IL-21 rs6822844 polymorphism was significantly associated with decreased RA susceptibility.

2020 ◽  
Vol 40 (1) ◽  
Author(s):  
Menglei Yu ◽  
Jingyi Hou ◽  
Minghui Zheng ◽  
Yi Cao ◽  
Yamuhanmode Alike ◽  
...  

Abstract Interleukin-21 (IL-21) is a cytokine that plays a crucial role in pathogenesis and activity of the rheumatoid arthritis (RA). Meanwhile, genetic polymorphisms in the IL-21 gene may alter its expression. Previous studies have reported conflicting results assessing the association between the IL-21 rs6822844 G/T polymorphism and RA risk. Thus, it’s necessary to perform a meta-analysis to definite above relationship. PubMed database was searched for all papers published until October 20, 2019. Nine case–control studies with 9998 cases and 10742 controls were retrieved based on the search criteria at last. Odds ratio (95% confidence interval) was used to calculate the strength of this association. Publication bias was detected using both Begg’s and Egger’s tests. Overall, the IL-21 rs6822844 G/T polymorphism was found to be significantly associated with decreased RA risk (e.g. T-allele versus G-allele: OR = 0.81, 95% CI = 0.72–0.91, P < 0.001). In addition, decreased RA risk was also detected both in Asians (eg: TT+TG versus GG: OR = 0.42, 95% CI = 0.31–0.56, P < 0.001) and Caucasians (eg: TT+TG versus GG: OR = 0.85, 95% CI = 0.80–0.91, P < 0.001). A similar trend in association was found in the source of the control and genotype method subgroups. Furthermore, subgroup analysis of rheumatoid factor status revealed a protective relationship between the IL-21 rs6822844 G/T polymorphism and RF+/RF- RA risk. A similar relationship was noted in the anti-citrullinated protein antibody status subgroup. The results of the present study suggest that the IL-21 rs6822844 G/T polymorphism was significantly associated with decreased RA susceptibility.


2018 ◽  
Vol 38 (3) ◽  
Author(s):  
Jing Wen ◽  
Zhi Lv ◽  
Hanxi Ding ◽  
Xinxin Fang ◽  
Mingjun Sun

Single nucleotide polymorphisms (SNPs) in miRNA biosynthesis genes DROSHA and DGCR8 were indicated to be correlated with cancer risk. We comprehensively reviewed and analyzed the effect of DROSHA and DGCR8 polymorphisms on cancer risk. Eligible articles were selected according to a series of inclusion and exclusion criteria. Consequently, ten case–control studies (from nine citations) with 4265 cancer cases and 4349 controls were involved in a meta-analysis of seven most prevalent SNPs (rs10719 T/C, rs6877842 G/C, rs2291109 A/T, rs642321 C/T, rs3757 G/A, rs417309 G/A, rs1640299 T/G). Our findings demonstrated that the rs417309 SNP in DGCR8 was significantly associated with an elevated risk of overall cancer in every genetic model. In stratified analysis, correlations of DROSHA rs10719 and rs6877842 SNPs were observed in Asian and laryngeal cancer subgroups, respectively. Moreover, associations of the rs417309 SNP could also be found in numerous subgroups including: Asian and Caucasian population subgroups; laryngeal and breast cancer subgroups; population-based (PB) and hospital-based (HB) subgroups. In conclusion, the DROSHA rs10719, rs6877842 SNPs, and DGCR8 rs417309 SNP play pivotal roles in cancerogenesis and may be potential biomarkers for cancer-forewarning.


2018 ◽  
Vol 33 (4) ◽  
pp. 364-371 ◽  
Author(s):  
Fei Lv ◽  
Yanju Ma ◽  
Ye Zhang ◽  
Zhi Li

Although many previous studies have reported the relationship between GSTP1 rs1695 gene polymorphism and myelosuppression induced by platinum-based drugs, the conclusions are not consistent. The aim of the study is to evaluate the association between granulocytopenia and thrombocytopenia induced by platinum-based drugs and GSTP1 rs1695 gene polymorphism by meta-analysis. A literature search was performed using the Pubmed, Embase, CNKI, and Wanfang databases, and the odds ratio (OR) and its 95% confidence interval (CI) were used to evaluate the correlation. Finally,12 case-control studies comprising 1657 patients were included in our study. GSTP1 rs1695 gene polymorphism showed a significant correlation with granulocytopenia induced by platinum-based drugs (dominant genetic model: OR=1.60, 95% CI=1.19. 2.15, P=0.002; recessive genetic model: OR=3.72, 95% CI=1.73, 8.00, P=0.001; allelic genetic model: OR=1.76, 95% CI=1.34, 2.33, P=0.001). This gene polymorphism is not associated with thrombocytopenia (OR=0.87, 95% CI=0.47, 1.60, P=0.649). False-positive report probability showed that the association between polymorphism and adverse reactions is true. Sensitivity analysis showed that the results were stable. However, there was a certain publication bias in the included studies. In conclusion, the GSTP1 rs1695 gene polymorphism is associated with granulocytopenia induced by platinum-based drugs.


2020 ◽  
Author(s):  
Chuankun Zhou ◽  
Shutao Gao ◽  
Yuan Xi ◽  
Zixing Shu ◽  
Song Li ◽  
...  

Abstract Background: Genetic predisposition was well known to be involved in the pathogenesis of Rheumatoid arthritis (RA). Lots of genetic studies on association between Cytotoxic T lymphocyte-associated protein 4 (CTLA-4) polymorphisms and RA susceptibility had been accumulated in the past few decades, yet reporting inconsistent results. Therefore, we summarized the most-often 3 polymorphisms and performed a meta-analysis to comprehensively evaluate the effect of CTLA-4 gene polymorphisms on RA risk.Methods: Five electronic databases were searched for eligible studies till Oct. 2020. The pooled odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to assess the strength of association. Stratified analysis was conducted by ethnicity.Results: In total, 42 case-control studies including 21681 cases and 23457 controls were obtained. For rs3087243 polymorphism, significant association was detected in Asians (A vs. G: OR=0.77, 95%CI=0.65-0.90, P=0.001; AA vs. GG: OR=0.67, 95%CI=0.48-0.94, P=0.02) and Caucasians (A vs. G: OR=0.89, 95%CI=0.86-0.93, P<0.00001; AA vs. GG: OR=0.81, 95%CI=0.75-0.88, P<0.00001). For rs231775 polymorphism, significant association was observed in the overall (G vs. A: OR =1.16, 95%CI=1.08-1.25, P<0.0001; GG vs. AA: OR=1.29, 95%CI=1.12-1.50, P=0.0006), in Asians (G vs. A: OR=1.27, 95%CI=1.10-1.47, P=0.001; GG vs. AA: OR=1.58, 95%CI=1.24-2.01, P=0.0002), and not in Caucasians. However, there was no association between rs5742909 polymorphism and RA risk.Conclusion: This meta-analysis confirmed that rs3087243 and rs231775 polymorphism were associated with the risk of RA in both overall population and ethnic-specific analysis, but there was no association between rs5742909 polymorphism and RA risk.


2021 ◽  
Author(s):  
Haipeng Pang ◽  
Shuoming Luo ◽  
Gan Huang ◽  
Xia Li ◽  
Zhiguo Xie ◽  
...  

Abstract BackgroundPolymorphisms rs231775 and rs3087243 of cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) gene have been associated with risk of latent autoimmune diabetes in adults (LADA). However, the results were inconsistent. The purpose of this study was to quantitatively assess the relationship between polymorphisms rs231775 and rs3087243 of CTLA-4 and LADA in a larger pooled population by performing a meta-analysis. MethodsSystematic search for eligible studies was conducted in PubMed, Web of Science, and Embase. Case-control studies containing genotype frequencies of polymorphisms rs231775 or rs3087243 of CTLA-4 gene were selected, and pooled odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the associations between polymorphisms of CTLA-4 and LADA in allelic genetic model, dominant genetic model, and recessive genetic model. ResultsA total of eleven studies, in which five studies reported rs231775, two studies reported rs3087342, and four studies reported both rs231775 and rs3087243, were identified. Among them, one study wasn’t included in the following meta-analysis because the distribution of genotypes in the control group didn’t comply with Hardy-Weinberg equilibrium. Significant associations with susceptibility to LADA were detected for rs231775 (785 cases and 3435 controls, allelic genetic model OR 1.53, 95%CI 1.22-1.92; dominant genetic model OR 2.16, 95%CI 1.43-3.28; recessive genetic model OR 1.49, 95%CI 1.13-1.97) and for rs3087243 (820 cases and 4824 controls, allelic genetic model OR 1.26, 95%CI 1.03-1.55; dominant genetic model OR 1.11, 95%CI 0.88-1.40; recessive genetic model OR 1.41, 95%CI 1.07-1.86) in overall population. Further subgroup analyses for ethnicity (Asian, Caucasian, and African) have also indicated the positive association between rs231775 and LADA. As for rs3087243, subgroup analyses detected the association between polymorphism and LADA in Caucasian population under recessive model. ConclusionsPolymorphisms rs231775 and rs3087243 of CTLA-4 gene are potential risk factors for LADA and may serve as novel genetic biomarkers of LADA.


2022 ◽  
Author(s):  
Xue-mei Wei ◽  
Xiao-hong Yang

Abstract In recent years, investigators have been striving to explore the pathogenesis of chronic obstructive pneumonia disease (COPD). Hedgehog Interacting Protein (HHIP) has been identified as a candidate susceptibility gene. Our aim is to synthesize and include all evidences to get a more comprehensive result. We searched 6 online databases- PubMed, Web of Science, Cochrane Library, Wanfang, EMBASE, CNKI. All included studies were published before October 1, 2021. We used Newcastle-Ottawa scale (NOS) to evaluate the bias of each study. Meta-analysis methods were conducted to evaluate the pooled result. A total of 14 comparative studies were included in this meta-analysis, for rs13118928 polymorphism, significant associations were observed in 5 genetic models, (A vs. G, OR=1.18, 95CI%=[1.07-1.30], P=0.0006; AA vs. GG, OR=1.56, 95CI%=[1.22-2.00], P=0.0004; AG vs. GG, OR=1.28, 95CI%=[1.05-1.55], P=0.01; AA+AG vs. GG, OR=1.36, 95CI%=[1.12-1.65], P=0.002; AA vs. AG+GG, OR=1.18, 95CI%=[1.05-1.33], P=0.006). as for rs1828591, there were also significant associations detected in the overall population, (A vs. G, OR=1.12, 95CI%=[1.05-1.19], P=0.0003; AA vs. GG, OR=1.27, 95CI%=[1.04-1.56], P=0.02; AG vs. GG, OR=1.25, 95CI%=[1.03-1.51], P=0.02; AA+AG vs. GG, OR=1.26, 95CI%=[1.04-1.53], P=0.02; AA vs. AG+GG, OR=1.10, 95CI%=[1.01-1.19], P=0.03). This meta-analysis showed that the A allele in both rs13118928 and rs1828591 was turn out to be the risk allele in developing COPD. The result of Codominant genetic model, Dominant genetic model and Recessive genetic model remain the same.


2018 ◽  
Vol 3 (1) ◽  
pp. 5-9
Author(s):  
Ali Sanjari Moghaddam ◽  
Morteza Roodgar ◽  
Hamid Mansourpour ◽  
Alireza Mosavi Jarrahi

Objective: The aim of this meta-analysis was to discover the effect of dominant and recessive genetic models of LSP1 gene rs3817198 polymorphism on breast cancer risk. Material and Method: We performed this meta-analysis according to PRISMA protocol. Three databases, including PubMed/Medline, Web of sciences, and EMBASE were searched. In this meta-analysis, we included all studies that evaluated the association between LSP1 gene rs3817198 and breast cancer risk. ORs and their reported 95% confidence interval (CI) for dominant and recessive inheritance models were extracted from final retrieved studies. ORs were pooled using both fixed and the random-effect models. Egger’s test and contour-enhanced funnel plot were used to evaluate publication bias and small study effect. Twelve publications were eligible for final analysis after observing our defined inclusion and exclusion criteria. Results: Totally, this meta-analysis composed of 15,530 cases and 20,258 controls. This study revealed a significant association between LSP1 gene rs3817198 polymorphism and breast cancer in the dominant genetic model (OR=1.07 [1.01-1.14]). Inversely, no association was found in the recessive genetic model (OR=1.10 [0.93-1.32]). Subgroup analysis displayed a significant association in population-based studies and European & American and African population only in the dominant genetic model. Begg’s funnel plot and Egger’s test revealed no publication bias. Conclusion: According to our findings, it seems that LSP1 gene rs3817198 polymorphism is associated with breast cancer risk and this risk is more prominent in Caucasians.


2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Pengfei Du ◽  
Xiaojie Ma ◽  
Changjiang Wang

Many studies have established that T-lymphocyte antigen-4 (CTLA4) is a susceptible gene for Graves’ disease (GD). Also many studies showed the association between the CTLA4 exon-1 49A/G polymorphism and the risk of developing Graves’ ophthalmopathy (GO) in GD patients. But those results were inconsistent. In recent years many new studies were published which helped to shed light on the relationship of CTLA4 SNP49 with GO. So we performed the meta-analysis to explore the association between the SNP49 and GO susceptibility in GD patients. Studies up to February 29, 2012, were searched by using PubMed. The odds ratio was used to evaluate the strength of the association. Altogether 12 case-control studies involving 2,505 participants were included in the meta-analysis. Results showed that the G allele was related to the increased risk of GO compared with the A allele under allelic genetic model (OR = 1.14, 95% CI: 1.14–1.72,P=0.001) in European subgroup. No publication bias was detected. Our results showed that the SNP49 polymorphism of CTLA4 gene was related to increased risk of GO.


2020 ◽  
Vol 57 (1) ◽  
pp. 91-99
Author(s):  
Mansour MOGHIMI ◽  
Seyed Alireza DASTGHEIB ◽  
Naeimeh HEIRANIZADEH ◽  
Mohammad ZARE ◽  
Elnaz SHEIKHPOUR ◽  
...  

ABSTRACT BACKGROUND: The role of -251A>T polymorphism in the anti-inflammatory cytokine interleukin-8 (IL-8) gene in gastric cancer was intensively evaluated, but the results of these studies were inconsistent. OBJECTIVE: Therefore, we performed a meta-analysis to provide a comprehensive data on the association of IL-8 -251T>A polymorphism with gastric cancer. METHODS: All eligible studies were identified in PubMed, Web of Science, EMBASE, Wanfang and CNKI databases before September 01, 2019. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) were derived from a fixed effect or random effect model. RESULTS: A total of 33 case-control studies with 6,192 cases and 9,567 controls were selected. Overall, pooled data showed that IL-8 -251T>A polymorphism was significantly associated with an increased risk of gastric cancer under all five genetic models, i.e., allele (A vs T: OR=1.189, 95% CI 1.027-1.378, P=0.021), homozygote (AA vs TT: OR=1.307, 95% CI 1.111-1.536, P=0.001), heterozygote (AT vs TT: OR=1.188, 95% CI 1.061-1.330, P=0.003), dominant (AA+AT vs TT: OR=1.337, 95% CI 1.115-1.602, P=0.002) and recessive (AA vs AT+TT: OR=1.241, 95% CI 1.045-1.474, P=0.014). The stratified analysis by ethnicity revealed an increased risk of gastric cancer in Asians and mixed populations, but not in Caucasians. Moreover, stratified by country found a significant association in Chinese, Korean and Brazilian, but not among Japanese. CONCLUSION: This meta-analysis suggests that the IL-8 -251T>A polymorphism is associated with an increased risk of gastric cancer, especially by ethnicity (Asian and mixed populations) and country (Chinese, Korean and Brazilian).


Author(s):  
Dimitrios Kazantzis ◽  
Panagiotis Theodossiadis ◽  
Christos Kroupis ◽  
George Theodossiadis ◽  
Irini Chatziralli

Abstract Purpose To evaluate the association between serum vitamin B12/folate and retinal vein occlusion (RVO). Methods A comprehensive search of the PubMed database was performed, which identified 271 abstracts to be screened. Ten studies met our inclusion criteria and a meta-analysis of these comparative case-control studies was performed on the mean ± standard deviation serum vitamin B12 and folate levels, without language restrictions. Nine studies with 720 patients with RVO and 613 controls were included in the meta-analysis for vitamin B12, and 10 studies with 784 patients with RVO and 677 controls in the meta-analysis for folate. Results There was no statistically significant difference between patients with RVO and controls in serum vitamin B12 levels (mean difference: − 40.25 pg/mL, p = 0.28), either central RVO (mean difference: − 18.24 pg/mL, p = 0.71) or branch RVO (mean difference: − 23.56 pg/mL, p = 0.48). On the contrary, the plasma folate level was significantly lower in RVO patients than in controls (mean difference: − 1.34 ng/mL, p = 0.001), as well as in patients with CRVO compared to controls (mean difference: − 1.48 ng/mL, p = 0.006), but not in BRVO patients (mean difference: − 0.72 ng/mL, p = 0.11). Conclusions RVO is associated with low serum folate levels, but not with serum vitamin B12 levels.


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